DisGeNET - a database of gene-disease associations

List of associated variants

INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA, C1833662

Source: ALL

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs387906789	VCP	0.742	0.200	9	35065352	missense variant	G/A;C	snv	4.0E-06		14
rs121909329	VCP	0.763	0.200	9	35065363	missense variant	C/A;G;T	snv			11
rs121909330	VCP	0.752	0.200	9	35065364	missense variant	G/A;C;T	snv			11
rs121909334	VCP	0.752	0.200	9	35065255	missense variant	C/T	snv	1.6E-05		10
rs121909335	VCP	0.776	0.200	9	35065351	missense variant	C/T	snv	8.0E-06		9
rs868435969	VCP	0.925	0.280	9	35066710	missense variant	G/A	snv			3